Incidental Mutation 'R8866:Zc3h7b'
| ID |
675960 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Zc3h7b
|
| Ensembl Gene |
ENSMUSG00000022390 |
| Gene Name |
zinc finger CCCH type containing 7B |
| Synonyms |
Scrg3 |
| MMRRC Submission |
068742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.229)
|
| Stock # |
R8866 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
81629299-81680470 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 81656681 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 166
(R166Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105181
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109554]
[ENSMUST00000230946]
|
| AlphaFold |
F8VPP8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109554
AA Change: R166Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000105181
Gene: ENSMUSG00000022390
AA Change: R166Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TPR_11
|
34 |
113 |
2.3e-12 |
PFAM |
|
Pfam:TPR_1
|
82 |
115 |
2.4e-6 |
PFAM |
|
Pfam:TPR_8
|
82 |
115 |
8.2e-4 |
PFAM |
|
Pfam:TPR_8
|
116 |
143 |
4.8e-3 |
PFAM |
|
low complexity region
|
294 |
309 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
ZnF_C3H1
|
482 |
508 |
2.15e1 |
SMART |
|
ZnF_C3H1
|
612 |
638 |
2.03e1 |
SMART |
|
ZnF_C3H1
|
757 |
782 |
8.31e0 |
SMART |
|
ZnF_C2H2
|
843 |
867 |
2.86e-1 |
SMART |
|
ZnF_C3H1
|
889 |
914 |
7.81e-1 |
SMART |
|
low complexity region
|
959 |
981 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230946
|
| Meta Mutation Damage Score |
0.0832 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains a tetratricopeptide repeat domain. The encoded protein also interacts with the rotavirus non-structural protein NSP3. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(9) : Gene trapped(9) |
| Other mutations in this stock |
Total: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2 |
C |
T |
3: 59,914,511 (GRCm39) |
T38I |
probably benign |
Het |
| Arhgap1 |
G |
T |
2: 91,499,744 (GRCm39) |
S293I |
probably benign |
Het |
| Arhgap45 |
C |
A |
10: 79,853,750 (GRCm39) |
P88Q |
probably damaging |
Het |
| Atg9a |
A |
C |
1: 75,161,867 (GRCm39) |
F560V |
probably damaging |
Het |
| Btaf1 |
T |
A |
19: 36,935,901 (GRCm39) |
N230K |
probably benign |
Het |
| Ccne1 |
A |
C |
7: 37,800,046 (GRCm39) |
H179Q |
probably benign |
Het |
| Dbr1 |
T |
A |
9: 99,460,497 (GRCm39) |
L109* |
probably null |
Het |
| Dchs1 |
G |
T |
7: 105,404,597 (GRCm39) |
N2648K |
probably benign |
Het |
| Ddx47 |
A |
G |
6: 135,000,356 (GRCm39) |
K451E |
probably benign |
Het |
| Dlgap1 |
A |
T |
17: 70,823,435 (GRCm39) |
H140L |
probably damaging |
Het |
| Dnah11 |
T |
A |
12: 118,156,107 (GRCm39) |
H181L |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,602,333 (GRCm39) |
C2074R |
probably damaging |
Het |
| Ell2 |
A |
T |
13: 75,917,793 (GRCm39) |
Q574H |
probably damaging |
Het |
| Eloa |
A |
C |
4: 135,737,538 (GRCm39) |
|
probably null |
Het |
| Epha7 |
A |
G |
4: 28,821,614 (GRCm39) |
I260V |
probably benign |
Het |
| Fbp2 |
T |
C |
13: 62,989,709 (GRCm39) |
K199R |
probably benign |
Het |
| Fetub |
A |
T |
16: 22,758,321 (GRCm39) |
E368V |
possibly damaging |
Het |
| Fsip2 |
A |
G |
2: 82,810,521 (GRCm39) |
Q2280R |
probably benign |
Het |
| Fstl4 |
A |
G |
11: 52,963,233 (GRCm39) |
E205G |
possibly damaging |
Het |
| Gm5592 |
A |
T |
7: 40,938,246 (GRCm39) |
R509S |
possibly damaging |
Het |
| Gpld1 |
A |
G |
13: 25,170,890 (GRCm39) |
T794A |
probably benign |
Het |
| Gsk3b |
A |
G |
16: 38,004,900 (GRCm39) |
Y157C |
probably damaging |
Het |
| Hgs |
A |
G |
11: 120,360,464 (GRCm39) |
N54S |
probably benign |
Het |
| Hydin |
G |
A |
8: 111,308,779 (GRCm39) |
V4022M |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,388,702 (GRCm39) |
S792P |
possibly damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,465 (GRCm39) |
I145M |
probably benign |
Het |
| Klra5 |
A |
T |
6: 129,880,533 (GRCm39) |
W212R |
probably damaging |
Het |
| Lrp6 |
A |
T |
6: 134,445,785 (GRCm39) |
N1009K |
probably benign |
Het |
| Lrrc10 |
T |
A |
10: 116,881,858 (GRCm39) |
N177K |
probably damaging |
Het |
| Lrrc39 |
T |
A |
3: 116,363,790 (GRCm39) |
I121N |
probably damaging |
Het |
| Mov10l1 |
A |
T |
15: 88,896,169 (GRCm39) |
D671V |
probably benign |
Het |
| Ndel1 |
A |
G |
11: 68,734,645 (GRCm39) |
|
probably null |
Het |
| Or10g3 |
A |
T |
14: 52,610,196 (GRCm39) |
Y105N |
probably damaging |
Het |
| Or1e27-ps1 |
A |
G |
11: 73,555,825 (GRCm39) |
Y130C |
probably damaging |
Het |
| Or1e32 |
A |
T |
11: 73,705,237 (GRCm39) |
S224T |
probably damaging |
Het |
| Or51a43 |
A |
T |
7: 103,718,119 (GRCm39) |
S40T |
probably damaging |
Het |
| Otop2 |
A |
G |
11: 115,220,354 (GRCm39) |
D398G |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,792,051 (GRCm39) |
V1246A |
probably damaging |
Het |
| Polr3b |
T |
A |
10: 84,531,555 (GRCm39) |
D810E |
probably benign |
Het |
| Ppl |
T |
A |
16: 4,920,211 (GRCm39) |
T395S |
probably benign |
Het |
| Ptprm |
G |
A |
17: 67,116,630 (GRCm39) |
A883V |
probably benign |
Het |
| Rapgef6 |
G |
A |
11: 54,443,700 (GRCm39) |
|
probably null |
Het |
| Rbm12 |
A |
T |
2: 155,938,693 (GRCm39) |
Y526* |
probably null |
Het |
| Rbm15b |
C |
T |
9: 106,763,595 (GRCm39) |
R191Q |
probably benign |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGACGGCGGCG |
7: 97,229,120 (GRCm39) |
|
probably benign |
Het |
| Rxylt1 |
A |
G |
10: 121,924,953 (GRCm39) |
Y250H |
probably damaging |
Het |
| Serpinb6c |
A |
T |
13: 34,083,309 (GRCm39) |
I35N |
probably damaging |
Het |
| Setd4 |
A |
G |
16: 93,386,961 (GRCm39) |
F246L |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,964,986 (GRCm39) |
S865G |
probably benign |
Het |
| Skint6 |
T |
C |
4: 112,711,650 (GRCm39) |
N956D |
probably benign |
Het |
| Slc30a3 |
C |
A |
5: 31,245,325 (GRCm39) |
V332F |
possibly damaging |
Het |
| Smg1 |
A |
G |
7: 117,806,122 (GRCm39) |
S240P |
unknown |
Het |
| Tank |
T |
A |
2: 61,409,005 (GRCm39) |
S7R |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,153,117 (GRCm39) |
E204G |
possibly damaging |
Het |
| Tmem74 |
A |
G |
15: 43,730,231 (GRCm39) |
S271P |
probably damaging |
Het |
| Tor4a |
T |
C |
2: 25,084,965 (GRCm39) |
M313V |
probably benign |
Het |
| Tpd52l2 |
A |
G |
2: 181,154,861 (GRCm39) |
D192G |
probably damaging |
Het |
| Trim29 |
T |
C |
9: 43,222,945 (GRCm39) |
V258A |
probably damaging |
Het |
| Ttc39c |
A |
T |
18: 12,831,003 (GRCm39) |
S288C |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,592,675 (GRCm39) |
E20819G |
probably damaging |
Het |
| Twnk |
C |
T |
19: 45,000,272 (GRCm39) |
Q663* |
probably null |
Het |
| Ucn |
T |
A |
5: 31,295,857 (GRCm39) |
Q3L |
probably benign |
Het |
| Unc80 |
G |
A |
1: 66,629,388 (GRCm39) |
G1295E |
probably benign |
Het |
| Usp9y |
C |
T |
Y: 1,395,758 (GRCm39) |
R492H |
probably damaging |
Het |
| Vars1 |
T |
C |
17: 35,234,620 (GRCm39) |
S1150P |
probably benign |
Het |
| Vwa5b1 |
T |
G |
4: 138,327,628 (GRCm39) |
E316A |
probably damaging |
Het |
| Zfp839 |
A |
G |
12: 110,834,848 (GRCm39) |
E701G |
probably benign |
Het |
| Zfp931 |
A |
T |
2: 177,710,178 (GRCm39) |
C69* |
probably null |
Het |
|
| Other mutations in Zc3h7b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01726:Zc3h7b
|
APN |
15 |
81,656,000 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01955:Zc3h7b
|
APN |
15 |
81,676,205 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02526:Zc3h7b
|
APN |
15 |
81,677,338 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02582:Zc3h7b
|
APN |
15 |
81,653,341 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02736:Zc3h7b
|
APN |
15 |
81,676,175 (GRCm39) |
missense |
probably benign |
0.02 |
|
F6893:Zc3h7b
|
UTSW |
15 |
81,662,872 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0212:Zc3h7b
|
UTSW |
15 |
81,660,529 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0242:Zc3h7b
|
UTSW |
15 |
81,653,031 (GRCm39) |
splice site |
probably benign |
|
|
R0471:Zc3h7b
|
UTSW |
15 |
81,666,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Zc3h7b
|
UTSW |
15 |
81,661,199 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R1530:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1563:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1565:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1566:Zc3h7b
|
UTSW |
15 |
81,653,035 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R1670:Zc3h7b
|
UTSW |
15 |
81,661,268 (GRCm39) |
missense |
probably benign |
|
|
R1712:Zc3h7b
|
UTSW |
15 |
81,661,289 (GRCm39) |
missense |
probably benign |
|
|
R1727:Zc3h7b
|
UTSW |
15 |
81,652,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Zc3h7b
|
UTSW |
15 |
81,676,529 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2375:Zc3h7b
|
UTSW |
15 |
81,676,703 (GRCm39) |
missense |
probably benign |
0.17 |
|
R2656:Zc3h7b
|
UTSW |
15 |
81,664,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4660:Zc3h7b
|
UTSW |
15 |
81,676,451 (GRCm39) |
missense |
probably benign |
0.07 |
|
R4764:Zc3h7b
|
UTSW |
15 |
81,653,384 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4815:Zc3h7b
|
UTSW |
15 |
81,677,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4999:Zc3h7b
|
UTSW |
15 |
81,663,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5086:Zc3h7b
|
UTSW |
15 |
81,677,375 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5169:Zc3h7b
|
UTSW |
15 |
81,657,515 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5395:Zc3h7b
|
UTSW |
15 |
81,656,702 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5407:Zc3h7b
|
UTSW |
15 |
81,670,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5587:Zc3h7b
|
UTSW |
15 |
81,656,059 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5721:Zc3h7b
|
UTSW |
15 |
81,657,499 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6001:Zc3h7b
|
UTSW |
15 |
81,676,236 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R6151:Zc3h7b
|
UTSW |
15 |
81,662,911 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6248:Zc3h7b
|
UTSW |
15 |
81,667,386 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6397:Zc3h7b
|
UTSW |
15 |
81,677,055 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6502:Zc3h7b
|
UTSW |
15 |
81,653,252 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7248:Zc3h7b
|
UTSW |
15 |
81,655,988 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7397:Zc3h7b
|
UTSW |
15 |
81,653,354 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7450:Zc3h7b
|
UTSW |
15 |
81,667,281 (GRCm39) |
missense |
probably benign |
|
|
R7471:Zc3h7b
|
UTSW |
15 |
81,664,682 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7575:Zc3h7b
|
UTSW |
15 |
81,662,086 (GRCm39) |
nonsense |
probably null |
|
|
R7645:Zc3h7b
|
UTSW |
15 |
81,664,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Zc3h7b
|
UTSW |
15 |
81,677,851 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R7881:Zc3h7b
|
UTSW |
15 |
81,664,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7918:Zc3h7b
|
UTSW |
15 |
81,653,189 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8001:Zc3h7b
|
UTSW |
15 |
81,663,461 (GRCm39) |
nonsense |
probably null |
|
|
R8504:Zc3h7b
|
UTSW |
15 |
81,664,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8855:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8856:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8857:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8865:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8867:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8868:Zc3h7b
|
UTSW |
15 |
81,656,681 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9071:Zc3h7b
|
UTSW |
15 |
81,677,964 (GRCm39) |
makesense |
probably null |
|
|
R9136:Zc3h7b
|
UTSW |
15 |
81,653,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9169:Zc3h7b
|
UTSW |
15 |
81,661,184 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9701:Zc3h7b
|
UTSW |
15 |
81,676,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9802:Zc3h7b
|
UTSW |
15 |
81,676,505 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTGTGGTTCCCAGAATGTG -3'
(R):5'- TACAGCTGGTGTCTGCAGTG -3'
Sequencing Primer
(F):5'- GTTCCCAGAATGTGACTTAGAAAGCC -3'
(R):5'- AGGGTCCTACTGCTCATTCCAG -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation